Associated Papers
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Classification of Congenital Leptin Deficiency.
von Schnurbein J et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.
Li H et al.
Molecular Genetics and Metabolism Reports, 2024
A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.
Baird HJM et al.
The Journal of Biological Chemistry, 2024
High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.
Saeed S et al.
Cell Reports. Medicine, 2023
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.
Mazen IH et al.
Molecular Genetics and Genomics : Mgg, 2023
Leptin Signaling in Obesity and Colorectal Cancer.
Socol CT et al.
International Journal of Molecular Sciences, 2022
Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.
Rajcsanyi LS et al.
Plos One, 2022
When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.
Salum KCR et al.
Frontiers in Endocrinology, 2021
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Yupanqui-Lozno H et al.
Genes, 2019
Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.
Bouafi H et al.
Biomed Research International, 2019
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India
Dayal D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018